News

Mutations in the B3GALT6 gene, a cause of spondylodysplastic Ehlers-Danlos syndrome (spEDS), disrupt the maturation of a type of collagen protein, undermining the structure and strength of connective tissue, according to a new study. These findings “may have a significant impact on the clinical expression of spEDS and advance…

For people living with hypermobile disorders like Ehlers-Danlos syndrome (EDS), the path to a correct diagnosis is often a long and difficult one, a new study suggests, leading to years of pain and a higher risk of serious health problems. The German-based research highlights a significant disconnect in care,…

A 25-year-old man’s perforated colon was the result of an undiagnosed case of vascular Ehlers-Danlos syndrome (vEDS), according to a case study from Portugal. “In the absence of colonic disease and with clinical manifestations of connective tissue disorders, a genetic investigation for vEDS should be conducted, even in individuals…

In the first case of its kind, doctors report that a child with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) recovered from a major bleeding emergency without needing surgery. The case suggests a non-surgical approach may be feasible for patients with the rare condition. Doctors managed the boy, 11, conservatively with blood…

Nearly every person with hypermobile Ehlers-Danlos syndrome (hEDS) had reduced blood flow in the brain when they stood up, a phenomenon linked with orthostatic intolerance, that is, symptoms such as dizziness on standing up from sitting or lying down, a study shows. Hallmark features of hEDS, the most common…

Adolescents with hypermobile Ehlers-Danlos syndrome (hEDS) are less active than their peers and tend to have more fatigue and negative mentalities about pain, a study reports. While hypermobile participants spent significantly more of their waking hours engaged in sedentary behavior and less in moderate-to-vigorous physical activity, they moved a…

A young man with vascular Ehlers-Danlos syndrome (EDS) developed a cerebral air embolism caused by air entering blood vessels in his brain that was difficult to diagnose and illustrated the importance of carefully reviewing CT scans. “Prompt identification of cerebral air embolism allows supportive measures to be started to…

For people with hypermobile Ehlers-Danlos syndrome (hEDS), intense pain in several body regions correlates with symptoms of depression and pain-related anxiety, a study reports. Depressive symptoms were associated most strongly with pain intensity in the lower extremities and in the abdomen. “This is the first study on patients with…

People with vascular Ehlers-Danlos syndrome (vEDS) more commonly experience artery problems than people with other disorders that are also marked by weakened blood vessels, a new study reports. The findings could help guide more personalized care and monitoring based on each individual’s condition, researchers said. “Tailored surveillance and management…

People with hypermobile Ehlers-Danlos syndrome (hEDS) show signs of dysfunction in small nerve fibers, those that detect pain and temperature and regulate automatic body functions such as heart rate and blood pressure, according to a small study. A loss of small nerve fiber function was more pronounced in hEDS…